title: Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
abstract: OBJECTIVE
  To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).
  
  
  METHODS
  Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX genes revealed a homozygous c.865_866insA mutation in the PEX2 gene leading to a frameshift 17 codons upstream of the stop codon. PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum disorders).
  
  
  CONCLUSIONS
  Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA.
authors.affiliation: Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France. caroline.sevin@inserm.fr
authors.forename: Caroline
authors.initials: C
authors.lastname: Sevin
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Patrick
authors.initials: P
authors.lastname: Aubourg
mesh_terms: D000293:Adolescent; D002524:Cerebellar Ataxia / Q000235:genetics*; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D016368:Frameshift Mutation; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D000074428:Peroxisomal Biogenesis Factor 2; D017422:Sequence Analysis, DNA
chemical_list: D008565:Membrane Proteins; C000614230:PEX2 protein, human; D000074428:Peroxisomal Biogenesis Factor 2; D004247:DNA